Category: Media

There are approximately 7,000 different types of rare diseases with more being discovered every day.

30 million Americans have a rare disease which could also be put as one in ten. The United States isn’t the only country that has citizens with rare diseases. Europe is the same with ten percent of the population diagnosed with rare diseases.

It is estimated that 350 million people across the globe suffer from rare diseases. If all of those people were put on their own country it would be the third most populous country in the world.

Of the 350 million people with a rare disease, about 50% of them are children and 30% of those children won’t live to see their fifth birthday.

Rare diseases are responsible for 35% of deaths in the first year of life.

Although one would think these diseases would be curable, 95% of rare diseases have not one single FDA approved drug treatment

Case Study:

An In-Depth Analysis of Neuroacanthocytosis

neuro- nerve

acantho- spiny; thorny

cytosis- condition of cells; slight increase in numbers

Neuroacanthocytosis is a general term for a group of rare progressive disorders, chorea being the most common movement disorder associated with it. Chorea is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes are also symptoms that often develop from neuroacanthocytosis. Neuroacanthocytosis syndromes typically progress to cause serious, disabling and sometimes life-threatening complications (and are usually fatal). Although the mode of transmission may vary, these disorders are typically inherited. Four distinct disorders are usually classified as the “core” neuroacanthocytosis syndromes – chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). All of these disorders share certain findings including abnormal involuntary movements, cognitive deterioration and acanthocytosis. Specifically, acanthocytosis refers to the presence of abnormally-shaped red blood cells called acanthocytes. Red blood cells are formed in the bone marrow and released into the bloodstream where they travel throughout the body delivering oxygen to tissue. Acanthocytes are abnormal red blood cells that have thorny or spiny projections of varying lengths protruding from the surface of the cell. Most adults normally have a small percentage of these unique red blood cells, but when individuals have abnormally high levels of acanthocytes, it often indicates the presence of an underlying disorder.

Minneapolis- Chloe’s Fight Rare Disease Foundation, a local 501c3 nonprofit founded in 2013 in honor of the late Chloe Barnes, will be hosting the ‘Wear Something Rare’ event on Feb. 27-28. The goal of the event is to spread awareness for the 30 million Americans affected by rare diseases, because every child deserves the right to fight. With overwhelming support and participation from Rep. Erik Paulsen and STEELE Fitness, this years Rare Disease Day is raising more awareness and funding than ever before.

“Rare Disease Day is an internationally recognized event,” says Erica Barnes, co-founder and President of Chloe’s Fight Rare Disease Foundation, “but little has been done in Minnesota to recognize it.” To help spread awareness and further promote the University of Minnesota’s top-notch researchers in finding effective treatments, Chloe’s Fight started the ‘Wear Something Rare’ campaign. February 28th has been set aside as a way for those with rare diseases to make their voices heard and we want to do it in a fun and memorable way” says Jaysin Anderson, a fellow board member who is leading the awareness campaign. “We are calling our campaign ‘Wear Something Rare.’” The idea is to have participants wear rare, funky, and unique clothing and share photos of their ‘rare wear’ on Rare Disease Day via Chloe’s Fight social media.

There are currently about 7,000 rare diseases known and only roughly 400 of them have an effective treatment, according to the National Institute of Health. One such disease, known as metachromatic leukodystrophy (MLD), took the life of Erica and her husband Philip’s 2 year old daughter, Chloe, in 2010. Following her death, Hopkins residents Philip and Erica began to search for ways to fight rare diseases like MLD. Through doctors at Mayo Clinic where Chloe received her care, the couple was put in contact with Dr. Paul Orchard and Jakub Tolar at the University of Minnesota. Upon their first meeting, Philip and Erica realized that while research for finding a cure for MLD is promising, funding is very limited for research into MLD and many other rare childhood diseases. Thus began their journey to start the Chloe’s Fight Rare Disease Foundation. So far the organization and its partners have raised more than $40,000 for Dr. Orchard and Dr. Tolar’s research.

Want to join the fight? Post a picture of your ‘rare wear’ on Chloe’s Fight Facebook page and purchase a button at Nokomis Beach Coffee in South Minneapolis. All proceeds from the campaign will go directly to the work of Dr. Paul Orchard and Jakub Tolar and their colleagues at the University of Minnesota. For more information please go to www.chloesfight.org

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2) Parenting

For the last 4 years I have struggled to find a label for myself. I like definitions for things. Labels are comforting and secure. Call it a personality trait, but I often feel if I could just find a word that describes the person I’ve become since losing my daughter I would somehow be able to own that title and act the way a whatever-the-word-is acts. I once heard a person say that we can find titles for all kinds of loss. A woman who loses her husband is a widow. A man who loses his wife is a widower. A child who loses his or her parents is an orphan. But, so the argument went, the loss of a child is so deep and painful that humanity hasn’t been able to find a word for it. Maybe that’s true. The thought resonated with me when I first heard it. But in the years since losing Chloe I have come to a different conclusion for why we haven’t found a special title for a person who loses a child.

Chloe was a spunky, beautiful, curly headed 2 year-old with a life of breathless wonder ahead of her. My husband and I had already woven more hopes and dreams for her future than I could count. When she was diagnosed with a terminal degenerative neural disease and only a slim chance of a cure, my husband and I did what any young parents would do for their baby; we fought like hell to save her life (or ensure she would live with the best quality of life possible) and adjusted our expectations as best we could. With every new piece of nightmarish diagnosis we tried to shift our parental paradigm to what her future may look like. “My God, Chloe may not be able to dance at her own prom. I just want her to be able to walk with a walker. Ok, I just want her to be able to walk AT ALL. What? The disease may cause intellectual impairment? I just want her to graduate high school. I just want her to be able to talk a little, maybe express her basic wants and needs. I just want my baby to live. I just want my baby to die without too much pain.”

The week that Chloe lay on hospice I packed up all but a few of her clothes, toys, and furniture and took them to a center that houses women struggling with addiction and their children. It was one of the most difficult things I had done since hearing her diagnosis, metachromatic leukodystrophy. I took down the tiny, new coat she had never even worn, hugged it against me and wept. In the anticipation that is second nature to a parent, I had bought her the coat ahead of winter. This is what parenting is. Countless acts of caring for our children. Tangible acts of love and care. Thinking ahead for them. But how would this little coat accomplish the purpose I as a parent had intended for it? I knew the hard answer in this new existence of mine; by being worn by a little girl who needed it. Chloe was no longer that child and I knew in my heart of hearts that stubbornly keeping it wouldn’t be “for her” anymore. That day a journey to find a new way to parent Chloe began.

A couple of days before Chloe died Philip and I sat beside her bed and made one of the most sacred promises of our lives. We promised her that we would do all of the good in the world we were meant to do as well as all the good she would have done if she had lived. This promise has been a driving force in our lives ever since and has crystallized choice after choice for us. While it requires honesty on our parts and constant reassessing of our own emotional health to stay grounded, is our new parenting paradigm.

This year Philip and I founded the Chloe’s Fight Rare Disease Foundation whose mission it is to fund research that finds cures for rare and underfunded diseases such as metachromatic leukodystrophy. We are often called heroes but we aren’t. We make a choice to tirelessly raise money, ceaselessly promote, obsessively research for the reason that all moms and dads make. So that, at the end of the day we can lay our heads down on our pillows and call ourselves what we all want to be called; a good parent. If, when a cure for metachromatic leukodystrophy is discovered (and if I had a part in it) my name is never mentioned I won’t care one bit. Somehow Chloe will know and I will have done my job for her. You see, parenthood doesn’t end when your child dies. I am and ever will be the mother of Chloe Sophia Barnes. So back to the assertion that society cannot find a word for a person who has lost a child. I believe society has the word. The word is “parent”.